Questions and answers

What metabolic defect causes galactosemia?

What metabolic defect causes galactosemia?

The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process.

Is galactosemia a metabolic disorders?

Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly.

What are the symptoms of galactosemia in infants?

Symptoms of galactosemia are:

  • Convulsions.
  • Irritability.
  • Lethargy.
  • Poor feeding — baby refuses to eat formula containing milk.
  • Poor weight gain.
  • Yellow skin and whites of the eyes (jaundice)
  • Vomiting.

What is the significance of galactose in an infant?

Galactose is a major nutrient in normal newborn infants and serves as a substrate for energy production and fuel storage and a regulator of carbohydrate assimilation. Inborn errors of galactose metabolism have contributed to our understanding of the potential toxicity of this carbohydrate.

How does a child get galactosemia?

Galactosemia happens when there’s a change (mutation) in the genes that make an enzyme that breaks down galactose. To have galactosemia, a child must inherit two galactosemia genes, one from each parent. In galactosemia, galactose and its byproducts build up in the blood.

What are the symptoms of galactosemia in children?

Galactosemia is caused by a lack of one of the enzymes needed to metabolize the sugar in milk. Symptoms include vomiting, jaundice, diarrhea, and abnormal growth. The diagnosis is based on blood and urine tests. Even with adequate treatment, affected children still develop mental and physical problems.

Which is the third disorder of galactose metabolism?

The third disorder of galactose metabolism, termed type 3 galactosemia, results from a deficiency of UDP-galactose-4-epimerase (GALE). Three different forms of this deficiency have been characterized.

What is the medical term for galactose deficiency?

Classic galactosemia refers to a disorder arising from profound deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) and is termed type 1 galactosemia. There are also classified clinical and biochemical variant forms of GALT deficient galactosemia.

Can a child with galactosemia take a lactose tolerance test?

A lactose tolerance test should NOT be administered to children with galactosemia. Fortunately, the body of an infant with galactosemia can synthesize galactolipids and other essential galactose-containing compounds without the presence of galactose in food.